Dr. Ahmed Esawy's Guide to Ultrasound Markers

Dr. Ahmed Esawy
MBBS M.Sc
MD
Dr/AHMED ESAWY

Ultrasound Markers
• Major ( Hard ) markers (structural abnormalities)
Karyotype even if isolated
• Minor ( Soft ) markers
Karyotype if associated with other findings
Dr/AHMED ESAWY

Dr/AHMED ESAWY
Organ System Major( Hard ) Minor/Soft Markers
CNS Ventriculomegaly Choroid plexus cyst
Holoprosencephaly
Microcephaly (biparietal diameter
(BPD) < 1st percentile and HP/FL <
2.5th percentile)
Dysgenesis of corpus callosum
Abnormal posterior fossa- dandy
walker complex
Musculoskeletal
Hand and feet anomalies– syndactyly,
clinodactyly, clenched fist, radial ray
aplasia, clubfoot and rocker-bottom foot
Short long bones
Face
Cleft palate and lips, micrognathia,
macroglossia, hypo- and hypertelorism,
low set ears, small ear
–
Major and Soft Markers of Aneuploidy

Dr/AHMED ESAWY
Neck Cystic hygroma
Nuchal fold
thickening
Cardiac
Endocardial cushion defect,
ventricular septal defect,
hypoplastic left heart syndrome,
tetralogy of Fallot, and other
complex cardiac anomalies
Echogenic focus
within heart
Gastrointestinal tract
Esophageal and duodenal atresia,
small bowel obstruction,
diaphragmatic hernia and
omphalocele
Echogenic bowel
Genitourinary tract
Moderate to severe hydronephrosis,
dysplastic renal disease, and renal
agenesis
Mild pyelectasis
Others
Intrauterine growth retardation in
second trimester, hydrops
Two-vessel cord,
single umbilical
Organ System Major( Hard ) Minor/Soft Markers

Definition of soft ultrasound markers
• Soft markers are minor ultrasound abnormalities,
considered variants of normal, which do not constitute a
• structural defect.
• They may be associated with chromosomal or none
chromosomal abnormalities.
Soft markers include:
• Those associated with increased risk of aneuploidy and in
some cases none chromosomal problems
• Nuchal translucency (NT)
• Nasal bone hypoplasia
• Nuchal pad edema
• Echogenic bowel
• Echogenic focus in the heart (golf ball sign)
• Choroid plexus cysts
• Mild ventriculomegaly
Dr/AHMED ESAWY

Those associated with an increased risk of non-
chromosomal abnormalities when seen in isolation
• Mild renal pyelectasis
• Single umbilical artery
• Enlarged cisterna
Those of undefined association
• Clenched fists
• Rocker bottom feet
• Sandal gap
• Strawberry shaped skull
• Shortened long bones
Dr/AHMED ESAWY

Minor markers:
• Wide iliac crest angle >90 degree
• Brachycephaly
• Frontal lobe shortening
• Abnormal short ear length
• Flat face
• Clinodactaly
• Hypo-plasia of middle phalanx of the 5th digit
• Sandal gap of great toe
• Simian crease
• Small cerebellar diameter
Dr/AHMED ESAWY

Final remarks:
• Detection by ultrasound depend on personal
experience
• Proper timing of scan
Dr/AHMED ESAWY

Disadvantages of soft markers
• 1- The exact significance of ultrasound soft markers is still uncertain.
• 2- It is operator dependent and therefore may be missed.
• 3- The detection of soft ultrasound markers requires training and high-
resolution ultrasound equipment.
• 4- The counseling, training and expertise required is currently difficult to
• achieve.
• 5- Some soft markers are transient and the significance is uncertain.
• 6- With better equipment, more markers may become more evident which
may cause more concern to the prospective parents.
• 7- Unless caution is exercised and it is combined with other markers for
abnormalities, it may lead to unnecessary interventions.Dr/AHMED ESAWY

A. Screening scan (16-20 weeks)
• Nuchal fold
• Echogenic bowel
• Ventriculomegaly
• Echogenic cardiac focus
• Choroid plexus cyst
• Single umbilical artery
• Enlarged cisterna magna
• Renal pyelectasis
Dr/AHMED ESAWY

Dr/AHMED ESAWY
NORMAL NUCHAL TRANSLUCENCY ABNORMAL NUCHAL TRANSLUCENCY
NUCHAL TRANSLUCENCY
It is the maximum thickness of the subcutaneous translucency between the skin and the soft
tissue overlying the cervical spine

Nuchal translucency (NT)
• measured between 11 – 14 weeks of pregnancy.
• It is a soft marker screening for
• Chromosomal abnormalities (trisomy 18 and 21),
• thoracic compression (diaphragmatic hernia)
• Cardiac abnormalities.
DD
• cystic hygroma
• Nuchal pad thickness
Dr/AHMED ESAWY

N.T. measure from one white line to
the other
Dr/AHMED ESAWY

Nuchal Pad thickness/fold
• It is the skin thickness in the posterior aspect of the fetal neck. It
should be measured between 15 – 20 weeks of gestation
• This is the second-trimester form of nuchal translucency
• It is found in about 0.5% of fetuses and it may be of no pathological
significance.
• sometimes associated with
• chromosomal defects,
• cardiac anomalies,
• infection
• genetic syndromes
• isolated nuchal edema, the risk for trisomy 21 may be 15 times the
background178
Dr/AHMED ESAWY

Nuchal Fold
•6mm or more significant
• Full structural survey – a must
• Sensitivity for Downs - 43%
(Benacerraf)
• Warrants Karyotyping even if
isolated
Dr/AHMED ESAWY

Nuchal edema or fold of more than 6mm
.
Dr/AHMED ESAWY

THICKENED NUCHAL FOLD
Dr/AHMED ESAWY

Increased NT
Nuchal Pad thickness (6mm or over)
Dr/AHMED ESAWY

Ultrasound scan at 11 weeks of gestation demonstrating 6-mm nuchal
translucency. Chorionic villus sampling revealed trisomy 18.
Dr/AHMED ESAWY

fetus after termination of pregnancy, demonstrating loose edematous skin over the neck,
accounting for the nuchal translucency on ultrasound scanning.
Dr/AHMED ESAWY

Echogenic fetal bowel
• Bowel as echogenic as bone
• commonest cause is intra-amniotic bleeding
• Associated with
• Placental failure
Trisomy 21,
Infection (CMV),
Cystic fibroisis
Dr/AHMED ESAWY

Hyperechogenic
bowel
This is found in about 0.5% of fetuses and is usually of no
pathological significance., but. For isolated hyperechogenic
bowel, the risk for trisomy 21 may be three times the
background Dr/AHMED ESAWY

ECHOGENIC BOWEL
Dr/AHMED ESAWY

Association with aneuploidy
• There is a high risk for association with trisomy 13, 18 and 21. .
Association with structural abnormalities
• Echogenic bowel has been associated with an increased risk for:
• Cystic fibrosis
• Congenital infection (cytomegalovirus [CMV], herpes, parvovirus,
rubella, varicella, and toxoplasmosis)
• Intra-amniotic bleeding
• Congenital malformations of the bowel
• Perinatal complications, including intrauterine growth restriction
Dr/AHMED ESAWY

Choroid plexus cysts
• sonographically discrete fluid filled small cysts
(< 3 mm) in the choroid plexus within the
lateral cerebral ventricles. It is seen in 1-2% of
fetuses scanned at 16 weeks and will almost
always disappear by 26 weeks.
Dr/AHMED ESAWY

• Isolated CP cysts 0.7 - 3.6 % of normal
fetuses no pathological significance
• isolated CP cyst with no other abnormality calls
for no intervention
• 2.3 % risk of chromosomal abnormality
• They are more associated with trisomy 18 (Edwards
syndrome) than trisomy 21.
• In chromosomally normal babies, associations with
structural abnormalities
Dr/AHMED ESAWY

Choroid
plexus cysts
Dr/AHMED ESAWY

Choroid Plexus Cysts
• Unilateral or bilateral
• Single or multiple
• 3-10 mm
• Regress by 24 weeks
Dr/AHMED ESAWY

Choroid plexus cyst
Dr/AHMED ESAWY

Warrants Karyotyping
Holoprosencephaly
Dr/AHMED ESAWY

: Alobar holoprosencephaly at 10 weeks.
Trisomy 18.
Dr/AHMED ESAWY

Enlarged Cisterna Magna
• If the cisterna magna is subjectively increased, a measurement
should be taken
• An isolated enlarged cisterna magna is not an indication for fetal
karyotyping
With an enlarged cisterna magna, expert review is recommended
for follow-up ultrasounds and possible other imaging modalities
(for example, MRI) and investigations
Dr/AHMED ESAWY

ENLARGED CISTERNA MAGNA
Dr/AHMED ESAWY

Mild Ventricolomegaly (10-12 mm)
5% risk of later severe brain abnormality
15% risk of mild problems later
The commonest abnormality is trisomy 21, 18,
13 & Triploidy
Dr/AHMED ESAWY

MILD VENTRICULOMEGALY
< 10 > 15 mm
Dr/AHMED ESAWY

Dr/AHMED ESAWY
Ventriculomegaly
LV > 11mm

Major Ventriculomegaly
Dr/AHMED ESAWY

Echogenic Cardiac Focus
• Located in the chordae tendinae,
not attached to ventricular walls
• Moves with AV valves
• 90% in LV, single or multiple
• 95% resolve spontaneously
•In high risk group 5 fold increase
for Downs
Search for other markers – If isolated no action
Best visualised in 4 CH view
Echogenic foci should be considered as a normal variant
Dr/AHMED ESAWY

Echogenic intracardiac focus in the
left ventricle of the heart
Dr/AHMED ESAWY
It is a focus of an echogenic small area in the
fetal heart with echogenisity comparable or
greater to the surrounding bone.
In low risk population, most EICF disappear by
term or after a short time after delivery.

Short long bones (femur and
humerus)
• Definition
Short femur and humerus length is defined as a measurement less
than the third centile for the gestational age.
• Isolated short femur or humerus length is associated with
aneuploidy and should be referred for tertiary level
evaluation.
• Short long bones may be associated with general skeletal
malformation or FGR. Ultrasound screening for other
• long bones and serial growth measurements should be undertaken
Dr/AHMED ESAWY

Short
femur
If the femur is below the 5th centile and all other measurements are normal, the baby
is likely to be normal but rather short. Rarely is this a sign of dwarfism.
, short femur is found four times as commonly in trisomy 21 fetuses compared to
normal fetuses. However, there is some evidence that isolated short femur may not be
more common in trisomic than in normal fetuses
Dr/AHMED ESAWY

Short proximal bones
Syndactaly is associated with
Triploidy
Sandal gap with Trisomy 21
Polydactaly with Trisomy 13
Overlapping fingers, Rocker
bottom feet and talipes with
trisomy 18
Dr/AHMED ESAWY

Pelviectasis
• Renal pelvis 5-10 mm with
no calyceal involvement
• Unilateral or Bilateral
• Scan for other markers
If in isolation no further action
May indicate obstructive pathology –
follow up scans
Predictive values range from 1:33 to 1: 340Dr/AHMED ESAWY

• MILD
PYELECTASIS
Dr/AHMED ESAWY
as the risk of Down syndrome remains small
Renal pelvis measurements > 10 mm should be
considered equivalent to congenital
hydronephrosis

• Fetal pyelectasis is associated with congenital hydronephrosis
or vesico-ureteric reflux
• All fetuses with renal pelvic measurements 5 mm should have
a neonatal ultrasound and pediatric follow up.
Dr/AHMED ESAWY

2-vessel cord
• The presence of a two-vessel cord can be a marker for
aneuploidy.
• This is not typically searched for in the first trimester., but
this finding can be recognized in a 10 weeks fetus.
• One would look for a 2-vessel cord if the fetus has other
findings such as a thick nuchal lucency for instance.
• Association with structural anomalies :An isolated single umbilical artery has been
associated with cardiac, renal abnormalities and fetal growth restriction (FGR).
• 0.2 to 1 percent of pregnancies present with a two vessel cord.
• Among these, about 1 to 10 percent have an aneuploidy, including trisomy
18, 13, triploidy and monosomy X.
Dr/AHMED ESAWY

Color Doppler, and energy Doppler demonstrate a 2 vessel cord
in a 10 week fetus.
Dr/AHMED ESAWY

SINGLE UMBILICAL ARTERY
Dr/AHMED ESAWY

|
Single umbilical artery
Legend:Single umbilical artery
Dr/AHMED ESAWY

short fetal ear length
• Although short fetal ear length may be a marker for
fetal aneuploidy, adequate evaluation has not been
undertaken to establish its usefulness as either a
screening tool or as part of a panel of markers for
tertiary centres.
The use of fetal ear length remains related to research
protocols
Dr/AHMED ESAWY

FLAT EAR
Slightly protruding ear
Markedly protruding
and curved ear
Dr/AHMED ESAWY

• Ear length (mm) = 0.968566 ´ gestational age
(weeks) Ð 4.81629
Dr/AHMED ESAWY

Strawberry skull
• Transverse scan
• Flattening of occiput with a
pointed appearance to the
frontal bones
• 45% incidence in Trisomy 18
• (? Skeletal dysplasia/? Normal
variant)
Dr/AHMED ESAWY

Duodenal atresia
Major Cardiac defects
Warrants Karyotyping
Dr/AHMED ESAWY

Current Concepts – Fetal Nasal Bone
Dr/AHMED ESAWY

Nasal bone present
Dr/AHMED ESAWY

Nasal bone absent
Dr/AHMED ESAWY

Small nasal bone in Down
Dr/AHMED ESAWY

Nasal Bone
• Absent or Small nasal bone indicative of Downs
syndrome
( Harvard Medical School)
• 15-22 wks Hypoplasia – 70% Downs
( Nicolaides ) 1% normal
Nasal hypoplasia has not been associated with other
aneuploidy
Absence or nasal bone hypoplasia has not been found
to be associated with structural abnormalities
Even when Isolated warrants Karyotyping - HMS
Dr/AHMED ESAWY

Central cleft palate & lip
Dr/AHMED ESAWY

Double pubble
30-40% risk of aneuploidy ( trisomy 13& 18)
Dr/AHMED ESAWY

clinodactyly
• 1. Imaging of the outstretched hand to evaluate for fifth
finger clinodactyly
is not an expectation during the 16- to 20 week
ultrasound (III-C).
• 2. Fifth finger clinodactyly is associated with trisomy 21
and should be considered for research or tertiary-level
evaluation
(III-B).
Dr/AHMED ESAWY

Increased iliac angle
• Increased iliac angle is a possible marker for trisomy
21;
• however, measurement techniques do not make it
amenable to a screening exam, and it has not been
evaluated to be effective in a low-risk population.
• This marker may be useful for tertiary centres
investigating high-risk patients or as a possible
negative predictor
Dr/AHMED ESAWY

sandal gap
• No further investigations or follow-up are
necessary if isolated sandal gap is detected.
• It is not part of the screening ultrasound
Dr/AHMED ESAWY

Tight amnion
• When the amnion is too close to the fetus in which the
gestational sac is predominantly occupied by the extra-
amniotic coelom,
• and the amniotic cavity is tightly wrapped around the
fetus.
Those fetuses are often at risk of trisomy 16 or triploidy.
The amnion is very tightly apposed around
this embryo. The embryo later miscarried and
was identified as a trisomy 16
Dr/AHMED ESAWY

Yolk sac anomalies
Several papers demonstrate that :
– An irregular yolk sac.
– Too large yolk sacs.
are factors that are predictors of pregnancies that will end up as
miscarriage in the first trimester
Dr/AHMED ESAWY

Major structural anomalies
• The presence of certain major anomalies should also prompt a
karyotype.
• at nine and ten weeks.
– One appeared to have an omphalocele (greater than the
normal physiological herniation of the guts ) and had
trisomy 18.
– The other one had a large obstructed bladder and a small
omphalocele and indeed had trisomy 13.
– Last had alobar holoprosencephaly also within trisomy 18.
Dr/AHMED ESAWY

Omphalocele at 9 weeks. Trisomy 18
Dr/AHMED ESAWY

Omphalocele
Cystic Hygroma
Warrants
Karyotyping
Dr/AHMED ESAWY

Megacystis
Posterior urethral valves in trisomy 13
Dr/AHMED ESAWY

Shapeless embryo
A shapeless embryo: is an embryo with no distinctive
head and body at a time when these findings should
be recognized.
• This can be a sign of various trisomies, usually very
lethal trisomies such as trisomy 8, 16, and triploidy.
Dr/AHMED ESAWY

Wide iliac crest
Dr/AHMED ESAWY

Prevalence of fetal chromosomal defects in fetuses with isolated and
multiple abnormalities
Ventriculomegaly 2% 17%
Holoprosencephaly 4% 39%
Choroid Plexus cysts <1% 48%
Posterior fossa cyst 0% 52%
Facial Cleft 0% 51%
Micrognathia - 62%
Cystic Hygroma 52% 71%
Nuchal oedema 19% 45%
Diphragmatic hernia 2% 49%
Heart Defects 16% 66%
Duodenal atresia 38% 64%
Exomphalos 8% 46%
Talipes 0% 33%
Growth Retardation 4% 38%
Dr/AHMED ESAWY

Trisomy 21: Down’s Syndrome
Dr/AHMED ESAWY

Second Trimester
Ultrasound Markers
15-20 weeks
Thickened nuchal fold
Pyelectasis
Echogenic bowel
Short long bones
Congenital anomaly
Hypoplastic 5th digit
Ear length
Echogenic intracardiac
focus
Dr/AHMED ESAWY

Nuchal Fold
CPC
Duodenal atresia Pyelectasis
Clinodactyly
Second trimester sonographic markers of Down syndrome
AV Canal
Dr/AHMED ESAWY

Problems with Second Trimester
Ultrasound
• Poor specificity
• Subjective
• Technical limitations
• Variability of gestational age
Dr/AHMED ESAWY

Trisomy 21: Down’s Syndrome
• Increased Nuchal Translucency
Dr/AHMED ESAWY

First trimester scanning
Nuchal translucency
Dr/AHMED ESAWY

Increased Nuchal Thickness
Dr/AHMED ESAWY

at 10-13 weeks with nuchal fold greater than
3mm arrived at the following risks estimates:
• 3mm ------ 3 times
• 4mm ------ 18 times
• 5mm ------ 28 times
• 6mm ------ 36 times
Dr/AHMED ESAWY

Increased nuchal skin fold behind the fetal neck. The
increased thickness of the skin can also be seen on the side of
the head. The nuchal skin fold is abnormal if it measures
more than 5 or 6 mm, depending upon the study that is cited
Dr/AHMED ESAWY

Nasal Bone Screening
“Absent” Nasal Bone
 Usefulness controversial
 Correct technique
 Significance of ethnicity
Absent NB seen in 2.8% Caucasians, 6.8% Asians,
10.4% Afro-Carribeans
 Optimal population (HR vs. LR)
 Optimal gestational age
Dr/AHMED ESAWY

Normal nasal bone
Dr/AHMED ESAWY

Short or absent nasal bone. Fetuses with Down
syndrome may have a shorter or absent nasal bone
Dr/AHMED ESAWY

Fetal Nose Bone Length
• Sagittal profile of a 20-week euploid fetus with
a normal nasal bone
Dr/AHMED ESAWY

• Sagittal profile of a 19-week fetus with Down
syndrome showing a small nasal bone (arrow).
• B, Sagittal profile of a 16-week fetus with an
absent nasal bone.
Dr/AHMED ESAWY

Dilated Ventricles of the brain. When the ventricles
measure 10 mm or greater, this is abnormal
Dr/AHMED ESAWY

Dilated Posterior Fossa of the brain
Dr/AHMED ESAWY

• Dilated cavum
septi pellucidi
(7.14mm) and
bilateral choroid
plexus cysts (arrow
Dr/AHMED ESAWY

Atrial and/or ventricular chamber disproportion. When this is
present, the right atrium and/or ventricle is larger than the
left atrium and/or ventricle
Dr/AHMED ESAWY

Ventricular and atrial septal defects. This is a hole in the wall that
separates the two ventricular and atrial chambers. This is also known as
an endocardial cushion defect or an AV canal defect. When this is
present the risk for Down syndrome is 50%.
Dr/AHMED ESAWY

Pericardial Effusion. This is a collection of fluid along the side
of the heart. In fetuses with Down syndrome, this is usually
located along the right ventricle of the heart.
Dr/AHMED ESAWY

Echogenic focus. This is a white dot that appears in the left ventricle,
occasionally in the right ventricle, and rarely in both ventricles. There is
debate as to whether it increases the risk for Down syndrome when
observed in isolation. In a recent study, Dr. DeVore found that an isolaed
echognic focus increaes the risk for Down syndrome 1.9 times
Dr/AHMED ESAWY

• Atrioventricular canal.Note the absence of the
crux cordis (star). RA: right atrium, LA: left
atrium, RV: right ventricle, LV: left ventricle.
Dr/AHMED ESAWY

Hyperechoic bowel. This occurs when the bowel appears to be brighter
than the surrounding tissue. Besides Down syndrome, it has been
associated with an increased risk for cystic fibrosis, cytomegalovirus
infection, parvovirus infection, and growth restriction that occurs later
in pregnancy
Dr/AHMED ESAWY

Pyelectasis. This is a dilated kidney that measures 4 or more
millimeters in diameter. This often resolves as the pregnancy
continues. Rarely, it develops into hydronephrosis that must
be treated following birth Dr/AHMED ESAWY

Measurements for Down Syndrome
• GA (weeks) --- BPD/FL ratio#
• 15 --------------------- 1.93
• 16 --------------------- 1.93
• 17 --------------------- 1.76
• 18 --------------------- 1.74
• 19 --------------------- 1.69
• 20 --------------------- 1.58
• 21 --------------------- 1.54
• 22 --------------------- 1.47
The mean +1.5
SD is usually used
as the cutoff level.
Dr/AHMED ESAWY

Trisomy 18:
• 2nd most common
chromosomal abnmlty
• 1 : 3000 births
• US identified abnormalities:
– Congenital Heart Dz
– CDH
– Omphalocele
– NTDefects
– Dandy-Walker
– Clenched Hands
– Single Umbilical Artery
Dr/AHMED ESAWY

Markers for Trisomy 18
Clindactyly
Micrognathia
Talipes Strawberry skull
Dr/AHMED ESAWY

• Close to 90% detected by prenatal scan
• US:
– Growth restriction
– Clenched fists
– >90% with cardiac defects
– Multiple malformations
• Grim prognosis
– 50% Stillbirth
– 50% die within the first week
– 5-10% survive the first year
Trisomy 18
Edward Syndrome
Dr/AHMED ESAWY

TRISOMY 18
• 1:3000, Lethal
• Edwards 1960
• Fixed flexion and
overlapping of fingers-
hallmark of this
syndrome
• Micrognathia in 70% in
sagittal section.
Dr/AHMED ESAWY

Trisomy 18
• Also called Edwards Syndrome
• There are three 18th chromosomes instead of
two
• Multiple major anomalies are seen
• Occurs in approximately 1:2500 pregnancies
• 50% carried to term will be stillborn
• Of those that survive, only 10% survive to their
first birthday
• Not genetic – typically occur sporadically
Dr/AHMED ESAWY

• Clenched Hands
• Choroid plexus cysts
• “Strawberry” shaped head
• Intrauterine growth restriction
• Cardiac defects
• Micrognathia
• Low set ears
Ultrasound Findings
Dr/AHMED ESAWY

Trisomy 13
Patau Syndrome
• > 90% detected prenatally
• US findings:
– Midline defects including clefts,
holoprosencephaly and NTDs
– >90% have cardiac defects
– Multiple structural abnormalities
• Grim prognosis
– High rate of miscarriage
– 80-85% die within first month
– 80-85% die within first year
1: 5000 , LETHAL
First described by Patau in 1960
Fetal growth restriction- in over 90% of
fetuses Dr/AHMED ESAWY

Markers of Trisomy 13
Holoprosencephaly Omphalocele VSD
Polydactyly
Dr/AHMED ESAWY

Absence of any markers conveys 70% reduction in
Down Syndrome
Dr/AHMED ESAWY

Fetal Ultrasound Showing Cardiac
Rhabdomyoma
Fetal MRI Showing Tubers
Prenatal Findings Consistent with Tuberous Sclerosis
Confirmed as Neonate
Dr/AHMED ESAWY

Prenatal diagnosis for Joubert
syndrome:
Challenges and Possibilities
Dr/AHMED ESAWY

Normal Fetal Hand:
3D US
Dr/AHMED ESAWY

Polydactyly:
3D US
Dr/AHMED ESAWY

Normal Face:
2D and 3D US
Dr/AHMED ESAWY

Non-invasive testing: Imaging
Prenatal Hydrocephalus on US
Dr/AHMED ESAWY

Imaging: Post-natal correlation
Hydrocephalus on MRI after birthDr/AHMED ESAWY

Molar Tooth Sign
deep interpeduncular fossa
thick, elongated SCPs
cerebellar vermis hypoplasia
Dr/AHMED ESAWY

Cerebellar vermis in utero
Normal HypoplasticNormal
Dr/AHMED ESAWY

JS in utero:
absence of cerebellar vermis
Ultrasound MRIDr/AHMED ESAWY

JS: enlarged cisterna magna
Ultrasound MRIDr/AHMED ESAWY

JS in utero:
polydactyly
1
23
4
5
6
Aslan et al. 2002Dr/AHMED ESAWY

JS in utero:
encephalocele
Wang et al. 1999Dr/AHMED ESAWY

Summary of the most common ultrasound findings of
aneuploidy during the second trimester
Dr/AHMED ESAWY

refferences
Ian A. Glass, MB ChB, MD, FACMG Associate Professor of Pediatrics and
Medicine
. Periodic health examination, 1992 update: 2. Routine prenatal ultrasound
• screening. Canadian Task Force on the Periodic Health Examination. Can
• Med J 1992;147(5):627–33.
Society of Obstetricians and Gynaecologists of Canada. Guidelines for the
• performance of ultrasound examination in obstetrics and gynaecology. J
• Soc Obstet Gynaecol Can 1995;17:263–6.
Society of Obstetricians and Gynaecologists of Canada. Guidelines for
• health care providers involved in prenatal screening and diagnosis. SOGC
• Clinical Practice Guidelines. No. 75; August 1998.
Dr/AHMED ESAWY

Dr. Ahmed Esawy's Guide to Ultrasound Markers

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